Whole genome sequencing –
a comprehensive view into patients’ genetic data
Often, after months, years and many costly tests, patients and physicians find themselves back where they started – sometimes with a dramatic deterioration of patients‘ quality of life.
CentoGenome® is the superior way to diagnose genetically complex and undiagnosed diseases with the highest level of certainty.
Today there are millions of patients suffering from wrongly or undiagnosed genetic diseases. WGS identifies nearly all changes in a patient’s DNA by sequencing the entire coding and non-coding regions of the genome. It provides detailed information on the thousands of genes involved in normal growth and development and all of the ‘silent’ genome regions simultaneously.
Existing research and diagnosis of genetic diseases have been heavily biased towards mutations in gene coding regions, but this is only 1% of a patient’s entire genome. Numerous clinical studies now exist which reveal the critical role of non-coding sequence variants in diseases.
WGS opens the door to greater research and diagnostic power for all genetic diseases.
CENTOGENE is revolutionizing genetic diagnostics with CentoGenome® – our premium whole genome analysis service for the diagnosis of complex diseases.
Whole genome sequencing (WGS) with CentoGenome® provides the most comprehensive genetic testing available for the detection of rare diseases. It identifies more different types of DNA sequence variation and offers greater sensitivity than any other technology available.
A detailed clinical analysis with comprehensive genetic testing is known to be the best way to achieve a diagnosis in this disorder, which often has a high level of genetic heterogeneity. WGS analysis with CentoGenome® can be applied as the primary analysis needed to reliably identify and characterize the comprehensive spectrum of genetic variation and provide a genetic diagnosis in the majority of patients with ID.
Successful diagnosis of hyperphosphatasia with mental retardation syndrome type 4 after detecting the c.181+1G>T variant in the PGAP3 gene – using CentoGenome®.Download our case study
Successful diagnosis of Gitelman syndrome after detecting the c.1670-191CYT variant in the SLC12A3 gene – using CentoGenome®.Download our case study
Comprehensive medical report
|Trio Advanced - Fast||30x||10|
|Somatic Advanced*||90x Tumor / 30x Normal||25|
|Somatic Advanced - Fast*||90x Tumor / 30x Normal||10|
|Somatic Advanced - Deep*||140x Tumor / 40x Normal||25|
Our medical consultation service is available for you both before and after testing.
Monday – Friday 07:00 – 20:00 CET
Saturday – Sunday 09:00 – 17:00 CET
Start exploring the worldʼs largest clinically annotated, CE-labeled mutation database of rare diseases.
Our free 14-day trial gives you access to ~3 million variants, full statistics and detailed description for 5 classified and curated variants.Subscribe for a 14-day free trial